Anti-fibrillin 2/FBN2 Antibody Picoband®

Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly.

Vacuolar protein sorting-associated protein 4B; Cell migration-inducing gene 1 protein; Suppressor of K (+) transport growth defect 1; Protein SKD1; VPS4B; SKD1; VPS42; MIG1

Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses) . VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan.

1. Babcock, D., Gasner, C., Francke, U., Maslen, C. A single mutation that results in an asp-to-his substitution and partial exon skipping in a family with congenital contractual arachnodactyly. Hum. Genet. 103: 22-28, 1998. 2. Belleh, S., Zhou, G., Wang, M., Der Kaloustian, V. M., Pagon, R. A., Godfrey, M. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. Am. J. Med. Genet. 92: 7-12, 2000. 3. Lee, B., Godfrey, M., Vitale, E., Hori, H., Mattei, M.-G., Sarfarazi, M., Tsipouras, P., Ramirez, F., Hollister, D. W. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352: 330-334, 1991.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.